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Nevado, Julián
322
results:
Search for persons
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Format
Online (322)
Mediatypes
Articles (Online) (113)
OpenAccess-fulltext (209)
Languages
english (264)
spanish (7)
Sorted by: Relevance
Sorted by: Year
?
1
Is nuchal translucency of 3.0-3.4 mm an indication for cfDN..:
Rybak-Krzyszkowska, Magda
;
Madetko-Talowska, Anna
;
Szewczyk, Katarzyna
...
Fetal Diagnosis and Therapy. , 2024
Link:
https://doi.org/10.1159/..
?
2
Variant characterisation and clinical profile in a large co..:
Altunoglu, Umut
;
Palencia-Campos, Adrian
;
Güneş, Nilay
...
Journal of Medical Genetics. 61 (2024) 7 - p. 633-644 , 2024
Link:
https://doi.org/10.1136/..
?
3
NGS Custom Panel Implementation in Patients with Non-Syndro..:
Sandoval-Talamantes, Ana Karen
;
Tenorio-Castaño, Jair Antonio
;
Santos-Simarro, Fernando
...
Genes. 14 (2023) 11 - p. 2091 , 2023
Link:
https://doi.org/10.3390/..
?
4
Chromosomal Microarray in Patients with Non-Syndromic Autis..:
Sandoval-Talamantes, Ana Karen
;
Mori, María Ángeles
;
Santos-Simarro, Fernando
...
Genes. 14 (2023) 4 - p. 820 , 2023
Link:
https://doi.org/10.3390/..
?
5
Adult experiences in Beckwith–Wiedemann syndrome:
Drust, William A.
;
Mussa, Alessandro
;
Gazzin, Andrea
...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193 (2023) 2 - p. 116-127 , 2023
Link:
https://doi.org/10.1002/..
?
6
A Spanish Family with Gordon Syndrome Due to a Variant in t..:
Peces, Ramón
;
Peces, Carlos
;
Espinosa, Laura
...
Genes. 14 (2023) 10 - p. 1878 , 2023
Link:
https://doi.org/10.3390/..
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7
Haemophilia B, severe childhood obesity and other extra‐hae..:
Radic, Claudia P.
;
Abelleyro, Miguel M.
;
Ziegler, Betiana
...
Haemophilia. 29 (2023) 3 - p. 844-854 , 2023
Link:
https://doi.org/10.1111/..
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8
Genetic and phenotypic findings in 34 novel Spanish patient..:
Parra, Alejandro
;
Pascual, Patricia
;
Cazalla, Mario
...
Clinical Genetics. 105 (2023) 2 - p. 140-149 , 2023
Link:
https://doi.org/10.1111/..
?
9
Definition and clinical variability of SHANK3-related Phela..:
Schön, Michael
;
Lapunzina, Pablo
;
Nevado, Julián
...
European Journal of Medical Genetics. 66 (2023) 7 - p. 104754 , 2023
Link:
https://doi.org/10.1016/..
?
10
Effect of HIV infection and antiretroviral therapy initiati..:
Esteban-Cantos, Andrés
;
Rodríguez-Centeno, Javier
;
Silla, Juan C.
...
eBioMedicine. 88 (2023) - p. 104434 , 2023
Link:
https://doi.org/10.1016/..
?
11
Consensus recommendations on communication, language and sp..:
Burdeus-Olavarrieta, Monica
;
Nevado, Julián
;
van Weering-Scholten, Sabrina
..
European Journal of Medical Genetics. 66 (2023) 5 - p. 104745 , 2023
Link:
https://doi.org/10.1016/..
?
12
Cognitive–Behavioral Profile in Pediatric Patients with Syn..:
Bel-Fenellós, Cristina
;
Biencinto-López, Chantal
;
Sáenz-Rico, Belén
...
Genes. 14 (2023) 8 - p. 1628 , 2023
Link:
https://doi.org/10.3390/..
?
13
Lamb–Shaffer syndrome: 20 Spanish patients and literature r..:
Tenorio‐Castano, Jair
;
Gómez, Ángela Sánchez‐Algaba
;
Coronado, Mónica
...
Clinical Genetics. 104 (2023) 6 - p. 637-647 , 2023
Link:
https://doi.org/10.1111/..
?
14
Clinical Heterogeneity and Different Phenotypes in Patients..:
Parra, Alejandro
;
Rabin, Rachel
;
Pappas, John
...
Genes. 14 (2023) 6 - p. 1179 , 2023
Link:
https://doi.org/10.3390/..
?
15
Novel genes and sex differences in COVID-19 severity:
Cruz, Raquel
;
Diz-de Almeida, Silvia
;
López de Heredia, Miguel
...
Human Molecular Genetics. 31 (2022) 22 - p. 3789-3806 , 2022
Link:
https://doi.org/10.1093/..
1-15